| 基因名 | 突变 |
|---|---|
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36336398C>G,c.1802G>C,p.G601A |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36335305C>T,c.1987G>A,p.E663K |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36334399G>A,c.2309C>T,p.P770L |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36333389G>A,c.2398C>T,p.R800C |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36333382C>T,c.2405G>A,p.R802Q |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36333098C>T,c.2591G>A,p.R864H |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36332686C>A,c.2746G>T,p.A916S |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36330456C>G,c.2869G>C,p.V957L |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36330262T>C,c.2986A>G,p.T996A |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36322601T>C,c.3230A>G,p.N1077S |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36322557G>A,c.3274C>T,p.R1092C |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36322270C>T,c.3315G>A,p.S1105S |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36322018G>A,c.3418C>T,p.R1140C |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36322017C>T,c.3419G>A,p.R1140H |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36321795G>A,c.3545C>T,p.T1182M |
| NPHS1(NM_004646,nephrosis 1, congenital, Finnish type (nephrin),1241aa) | g.19:36317493A>C,c.3649T>G,p.Y1217D |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:6046316C>T,c.34G>A,p.V12M |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:6046264G>A,c.86C>T,p.T29M |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:6038352G>A,c.257C>T,p.P86L |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:6038338A>G,c.271T>C,p.F91L |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:6029180G>A,c.419C>T,p.P140L |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:6027419G>A,c.457C>T,p.R153W |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:6027365C>T,c.511G>A,p.A171T |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:6012770T>A,c.800A>T,p.H267L |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:6008266G>A,c.856C>T,p.R286C |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:6008178G>A,c.944C>T,p.T315M |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:6007277C>G,c.1006G>C,p.A336P |
| NPHP4(NM_015102,nephronophthisis 4,1426aa) | g.1:6007259G>A,c.1024C>T,p.R342C |